ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.524C>T (p.Ser175Phe)

gnomAD frequency: 0.16789  dbSNP: rs10138997
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000245424 SCV000313706 benign not specified criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000245424 SCV000603596 benign not specified 2016-12-05 criteria provided, single submitter clinical testing
Invitae RCV001515921 SCV001724104 benign Fanconi anemia 2024-02-01 criteria provided, single submitter clinical testing
GeneDx RCV001689904 SCV001908346 benign not provided 2019-02-24 criteria provided, single submitter clinical testing
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316441 SCV004015689 benign Premature ovarian failure 15 2023-07-07 criteria provided, single submitter clinical testing

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